Abstract
Purpose :
To evaluate the presence of specific aqueous humour (AH) biomarkers in eyes affected by uveal melanoma (UM) and to correlate them with tumor genetic and clinical characteristics.
Methods :
Seventy-two eyes affected by primary UM were included. Tumor thickness, serous detachment and largest basal diameter were specific clinical characteristics. During brachytherapy AH sample collection and transscleral fine needle aspiration biopsy were performed. AH samples were analyzed by microarray and western blotting techniques to quantify selected proteins. Cytologic material underwent fluorescence in situ hybridization for chromosome 3. The AH of thirty-six normal eyes, scheduled for cataract surgery, was used as control.
Results :
Compared with the control group, significantly higher levels of Somatostatin Receptor Type 1 (SSTR1; p=0.027), Splicing Factor 3B subunit 1 (SF3B1; p=0.026), BRCA1 Associated Protein 1 (BAP1; p=0.012), Guanine nucleotide binding protein [G protein], q polypeptide (GNAQ; p=0.024), Human Melanoma Black (HMB45; p=0.017), Interleukin-6 (IL-6; p=0.049), IL-8 (p=0.007), Regulated upon Activation Normal T cell Expressed and Secreted (RANTES; p=0.009), Pigment Epithelium-Derived Factor (PEDF; p=0.049), Osteopontin (p=0.049), Epidermal Growth Factor (EGF; p=0.042), basic Fibroblast Growth Factor (bFGF; p=0.018), Macrophage Inhibiting Factor (MIF; p=0.008), Monocyte Chemoattractant Protein (MCP; p=0.022) were detected in UM group. A positive significant correlation was found between: tumor thickness and IL-8(p = 0.032) and VEGF(p = 0.032), degree of serous retinal detachment and IL-6 (p = 0.021), largest basal diameter and RANTES (p = 0.031). Monosomy 3 was detected in 34 cases (47%) and disomy 3 in 38 cases (53%). Statistically significant higher levels of inflammatory proteins were detected in eyes with monosomy 3 UM (p=0.049).
Conclusions :
Selected biomarkers may be identified in the AH of eyes affected by UM. These findings not only confirm in vivo the possibilities offered by AH analysis in UM eyes, but suggest that AH evaluation may represent the liquid biopsy approach in UM diagnosis, prognosis and follow-up.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.